GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Impaired ristocetin-induced platelet aggregation
phenotype Pathologic Function 6 1 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 33 0.100 None 0
Giant platelet (morphologic abnormality)
phenotype Finding 10 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0473237
Disease: Frank hematuria
Frank hematuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 1 0.100 None 0
Prolonged bleeding after dental extraction
phenotype Pathologic Function 8 0.100 None 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
phenotype Laboratory Procedure 10 0.100 None 0
Deficiency of Platelet Glycoprotein 1b
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 11 1 0.100 None 0
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney
phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4021646
Disease: Prolonged bleeding after surgery
Prolonged bleeding after surgery
phenotype Pathologic Function 11 0.100 None 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
disease Finding 10 0.100 None 0
Decreased platelet glycoprotein Ib-IX-V
phenotype Finding 3 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
phenotype Finding 39 3 0.100 None 0
CUI: C0018926
Disease: Hematemesis
Hematemesis
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 14 1 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0034150
Disease: Purpura
Purpura
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0025323
Disease: Menorrhagia
Menorrhagia
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 34 6 0.100 None 0
CUI: C0014591
Disease: Epistaxis
Epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 50 2 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.800 definitive 0.981 52 6 1983 2019